Canonical Allele Identifier: CA2662971837

Gene: BARD1

Linked Data

• gnomAD v4: 2-214781514-CAGAAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781522_214781529del , CM000664.2:g.214781522_214781529del	GRCh38
NC_000002.11:g.215646246_215646253del , CM000664.1:g.215646246_215646253del	GRCh37
NC_000002.10:g.215354491_215354498del	NCBI36
NG_012047.2:g.33183_33190del
NG_012047.3:g.33190_33197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.365-13_365-6del MANE Select	ENSP00000260947.4:n.365-13_365-6del
ENST00000421162.2:c.215+15539_215+15546del	ENSP00000392245.2:n.215+15539_215+15546del
ENST00000613192.2:c.158+27890_158+27897del	ENSP00000483275.2:n.158+27890_158+27897del
ENST00000613374.5:c.158+27890_158+27897del	ENSP00000484464.1:n.158+27890_158+27897del
ENST00000613706.5:c.365-13_365-6del	ENSP00000484976.2:n.365-13_365-6del
ENST00000617164.5:c.308-13_308-6del	ENSP00000480470.1:n.308-13_308-6del
ENST00000619009.5:c.364+10775_364+10782del	ENSP00000482293.1:n.364+10775_364+10782del
ENST00000650978.1:c.207-13_207-6del
ENST00000260947.8:c.365-13_365-6del	ENSP00000260947.4:n.365-13_365-6del
ENST00000421162.1:c.215+15539_215+15546del	ENSP00000392245.1:n.215+15539_215+15546del
ENST00000455743.5:c.216-13_216-6del	ENSP00000412186.1:n.216-13_216-6del
ENST00000471787.1:n.260-13_260-6del
ENST00000613192.1:c.73+27890_73+27897del	ENSP00000483275.1:n.73+27890_73+27897del
ENST00000613374.4:c.158+27890_158+27897del	ENSP00000484464.1:n.158+27890_158+27897del
ENST00000613706.4:c.215+15539_215+15546del	ENSP00000484976.1:n.215+15539_215+15546del
ENST00000617164.4:c.308-13_308-6del	ENSP00000480470.1:n.308-13_308-6del
ENST00000619009.4:c.364+10775_364+10782del	ENSP00000482293.1:n.364+10775_364+10782del
ENST00000620057.4:c.364+10775_364+10782del	ENSP00000481988.1:n.364+10775_364+10782del
NM_000465.3:c.365-13_365-6del	NP_000456.2:n.365-13_365-6del
NM_001282543.1:c.308-13_308-6del	NP_001269472.1:n.308-13_308-6del
NM_001282545.1:c.215+15539_215+15546del	NP_001269474.1:n.215+15539_215+15546del
NM_001282548.1:c.158+27890_158+27897del	NP_001269477.1:n.158+27890_158+27897del
NM_001282549.1:c.364+10775_364+10782del	NP_001269478.1:n.364+10775_364+10782del
NR_104212.1:n.358-13_358-6del
NR_104215.1:n.301-13_301-6del
NR_104216.1:n.506+10775_506+10782del
XM_011511567.1:c.311-13_311-6del	XP_011509869.1:n.311-13_311-6del
XM_011511568.1:c.365-13_365-6del	XP_011509870.1:n.365-13_365-6del
XM_017004613.1:c.464-13_464-6del	XP_016860102.1:n.464-13_464-6del
XM_017004614.1:c.464-13_464-6del	XP_016860103.1:n.464-13_464-6del
XR_002959322.1:n.555-13_555-6del
NM_000465.4:c.365-13_365-6del MANE Select	NP_000456.2:n.365-13_365-6del
NM_001282543.2:c.308-13_308-6del	NP_001269472.1:n.308-13_308-6del
NM_001282545.2:c.215+15539_215+15546del	NP_001269474.1:n.215+15539_215+15546del
NM_001282548.2:c.158+27890_158+27897del	NP_001269477.1:n.158+27890_158+27897del
NM_001282549.2:c.364+10775_364+10782del	NP_001269478.1:n.364+10775_364+10782del
NR_104212.2:n.330-13_330-6del
NR_104215.2:n.273-13_273-6del
NR_104216.2:n.478+10775_478+10782del